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Article

Everything, everywhere: FSHD as a model for complex genetic disease

1 Aug 2026

Abstract excerpt

Medical genetics can reveal how genetic variations shape human biology by addressing a critical question: how does a genetic lesion become a phenotype? Facioscapulohumeral muscular dystrophy (FSHD), exemplifies how a seemingly simple genetic lesion can affect multiple layers of cellular regulation, affecting 'everything, everywhere all at once'.

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42586911
DOI: 10.1016/j.tig.2026.07.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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